It is now clear that missense and synonymous variants within exons and some intronic variants can affect pre-mRNA splicing. While predictive programs can identify alterations in splice enhancers and suppressors and creation or deletion of recognition sequences, they are poor at determining if they are used. Additionally, it is difficult to determine the splice outcomes of variants identified by genomic sequencing. The CDL now offers mRNA splicing studies of genes that are included in our test menu and are expressed in dermal fibroblasts.
